CUL4B Chromosome X
Cullin 4B
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What This Gene Does
This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cullins
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000158290
Associated Conditions (10)
X-linked intellectual disability Cabezas type
Pettigrew syndrome
CUL4B-related disorder
Inborn genetic diseases
Global developmental delay
Abnormal facial shape
Intellectual disability
Seizure
Short stature
CUL4B-related X-linked intellectual disability
Key Variants
RS1199433297
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
Health Risk
RS1556173896
Conflicting classifications of pathogenicity
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS1556200641
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
Health Risk
RS1569390976
Conflicting classifications of pathogenicity
Health Risk
RS375607970
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type
Health Risk
RS754330779
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type
Health Risk
RS757649304
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, Inborn genetic diseases, X-linked intellectual disability Cabezas type
Health Risk
RS757896094
Conflicting classifications of pathogenicity
CUL4B-related disorder, Inborn genetic diseases, CUL4B-related disorder
Health Risk
RS760294805
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, Inborn genetic diseases, CUL4B-related disorder
Health Risk
RS769730471
Conflicting classifications of pathogenicity
Health Risk
RS869320682
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type
Health Risk
RS886043694
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786200913 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS797044862 | Health Risk | Pathogenic | Inborn genetic diseases, X-linked intellectual disability Cabezas type, CUL4B-related X-linked intellectual disability |
| RS867783098 | Health Risk | Pathogenic | — |
| RS878853152 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS886039718 | Health Risk | Pathogenic | — |